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Rabbit Anti-G6PC3/FITC Conjugated antibody
background:
This gene encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the last step of the gluconeogenic and glycogenolytic pathways. Mutations in this gene result in autosomal recessive severe congenital neutropenia. Multiple transcript variants have been found for this gene, only one of which is expected to express a protein.[provided by RefSeq, Sep 2009].
Function:
Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. May form with the glucose-6-phosphate transporter (SLC37A4/G6PT) a ubiquitously expressed complex responsible for glucose production through glycogenolysis and gluconeogenesis. Probably required for normal neutrophil function.
Subcellular Location:
Endoplasmic reticulum membrane; Multi-pass membrane protein.
Tissue Specificity:
Ubiquitously expressed. Highly expressed in skeletal muscle, at intermediate levels in heart, brain, placenta, kidney, colon, thymus, spleen and pancreas. Also detected in testis, prostate, ovary, liver, lung, small intestine and peripheral blood lymphocytes.
DISEASE:
Defects in G6PC3 are the cause of neutropenia severe congenital autosomal recessive type 4 (SCN4) [MIM:612541]. Autosomal recessive SCN constitutes a primary immunodeficiency syndrome associated with increased apoptosis in myeloid cells. Individuals show a paucity of mature neutrophils in peripheral blood and bone marrow and develop life-threatening bacterial infections. SCN4 is a severe congenital neutropenia syndrome associated with cardiac and urogenital malformations.
Defects in G6PC3 are the cause of Dursun syndrome (DURSS) [MIM:612541]. A disease characterized by pulmonary arterial hypertension, cardiac abnormalities including secundum-type atrial septal defect, intermittent neutropenia, lymphopenia, monocytosis and anemia.
Similarity:
Belongs to the glucose-6-phosphatase family.
Database links:
Entrez Gene: 92579 Human
Entrez Gene: 61681 Mouse
Entrez Gene: 303565 Rat
Omim: 611045 Human
SwissProt: Q9BUM1 Human
SwissProt: Q6NSQ9 Mouse
SwissProt: Q6AZ83 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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